LOCUS       NM_000113               2080 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens torsin family 1 member A (TOR1A), mRNA.
ACCESSION   NM_000113
VERSION     NM_000113.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2080)
  AUTHORS   Akter,M., Cui,H., Hosain,M.A., Liu,J., Duan,Y. and Ding,B.
  TITLE     RANBP17 Overexpression Restores Nucleocytoplasmic Transport and
            Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons
  JOURNAL   J Neurosci 44 (15), e1728232024 (2024)
   PUBMED   38438257
  REMARK    GeneRIF: RANBP17 Overexpression Restores Nucleocytoplasmic
            Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia
            Motor Neurons.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2080)
  AUTHORS   Taiwo,F.T. and Adebayo,P.B.
  TITLE     Neuroimaging findings in DYT1 dystonia and the pathophysiological
            implication: A systematic review
  JOURNAL   Brain Behav 13 (6), e3023 (2023)
   PUBMED   37165749
  REMARK    GeneRIF: Neuroimaging findings in DYT1 dystonia and the
            pathophysiological implication: A systematic review.
            Review article
REFERENCE   3  (bases 1 to 2080)
  AUTHORS   Rauschenberger,L., Krenig,E.M., Stengl,A., Knorr,S., Harder,T.H.,
            Steeg,F., Friedrich,M.U., Grundmann-Hauser,K., Volkmann,J. and
            Ip,C.W.
  TITLE     Peripheral nerve injury elicits microstructural and neurochemical
            changes in the striatum and substantia nigra of a DYT-TOR1A mouse
            model with dystonia-like movements
  JOURNAL   Neurobiol Dis 179, 106056 (2023)
   PUBMED   36863527
  REMARK    GeneRIF: Peripheral nerve injury elicits microstructural and
            neurochemical changes in the striatum and substantia nigra of a
            DYT-TOR1A mouse model with dystonia-like movements.
REFERENCE   4  (bases 1 to 2080)
  AUTHORS   Van Coller,R., Schutte,C.M., Lubbe,E. and Ngele,B.
  TITLE     TOR1A mutation-related isolated childhood-onset generalised
            dystonia in South Africa
  JOURNAL   S Afr Med J 111 (10), 946-949 (2021)
   PUBMED   34949287
  REMARK    GeneRIF: TOR1A mutation-related isolated childhood-onset
            generalised dystonia in South Africa.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2080)
  AUTHORS   Kamm,C., Castelon-Konkiewitz,E., Naumann,M., Heinen,F., Brack,M.,
            Nebe,A., Ceballos-Baumann,A. and Gasser,T.
  TITLE     GAG deletion in the DYT1 gene in early limb-onset idiopathic
            torsion dystonia in Germany
  JOURNAL   Mov Disord 14 (4), 681-683 (1999)
   PUBMED   10435508
REFERENCE   6  (bases 1 to 2080)
  AUTHORS   Augood,S.J., Penney,J.B. Jr., Friberg,I.K., Breakefield,X.O.,
            Young,A.B., Ozelius,L.J. and Standaert,D.G.
  TITLE     Expression of the early-onset torsion dystonia gene (DYT1) in human
            brain
  JOURNAL   Ann Neurol 43 (5), 669-673 (1998)
   PUBMED   9585364
REFERENCE   7  (bases 1 to 2080)
  AUTHORS   Ozelius,L.J., Hewett,J.W., Page,C.E., Bressman,S.B., Kramer,P.L.,
            Shalish,C., de Leon,D., Brin,M.F., Raymond,D., Jacoby,D.,
            Penney,J., Risch,N.J., Fahn,S., Gusella,J.F. and Breakefield,X.O.
  TITLE     The gene (DYT1) for early-onset torsion dystonia encodes a novel
            protein related to the Clp protease/heat shock family
  JOURNAL   Adv Neurol 78, 93-105 (1998)
   PUBMED   9750906
  REMARK    Review article
REFERENCE   8  (bases 1 to 2080)
  AUTHORS   Ozelius,L.J., Hewett,J.W., Page,C.E., Bressman,S.B., Kramer,P.L.,
            Shalish,C., de Leon,D., Brin,M.F., Raymond,D., Corey,D.P., Fahn,S.,
            Risch,N.J., Buckler,A.J., Gusella,J.F. and Breakefield,X.O.
  TITLE     The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding
            protein
  JOURNAL   Nat Genet 17 (1), 40-48 (1997)
   PUBMED   9288096
REFERENCE   9  (bases 1 to 2080)
  AUTHORS   Ozelius,L. and Lubarr,N.
  TITLE     DYT1 Early-Onset Isolated Dystonia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301665
REFERENCE   10 (bases 1 to 2080)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU098588.1, BC014484.1,
            BC000674.2, AK075343.1, AF007871.1, AK056062.1 and BU790507.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000113.2.
            
            Summary: The protein encoded by this gene is a member of the AAA
            family of adenosine triphosphatases (ATPases), is related to the
            Clp protease/heat shock family and is expressed prominently in the
            substantia nigra pars compacta. Mutations in this gene result in
            the autosomal dominant disorder, torsion dystonia 1. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.312261.1,
                                           SRR1660807.193372.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000351698.5/ ENSP00000345719.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-249               AU098588.1         52-300
            250-495             BC014484.1         218-463
            496-825             BC000674.2         483-812
            826-974             AK075343.1         802-950
            975-1263            BC000674.2         962-1250
            1264-1503           AF007871.1         1255-1494
            1504-2079           AK056062.1         1409-1984
            2080-2080           BU790507.1         512-512
FEATURES             Location/Qualifiers
     source          1..2080
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2080
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="torsin family 1 member A"
                     /db_xref="GeneID:1861"
                     /db_xref="HGNC:HGNC:3098"
                     /db_xref="MIM:605204"
     exon            1..229
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1050
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="dystonia 1, torsion (autosomal dominant; torsin A);
                     dystonia 1 protein; torsin ATPase 1; torsin ATPase-1A"
                     /codon_start=1
                     /product="torsin-1A precursor"
                     /protein_id="NP_000104.1"
                     /db_xref="CCDS:CCDS6930.1"
                     /db_xref="GeneID:1861"
                     /db_xref="HGNC:HGNC:3098"
                     /db_xref="MIM:605204"
                     /translation="MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYC
                     LFAECCGQKRSLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHG
                     WTGTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVS
                     ACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVA
                     LDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKH
                     LKMCIRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD"
     exon            230..495
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            496..671
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            672..799
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /inference="alignment:Splign:2.1.0"
     exon            800..2080
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1443
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="major polyA site"
     regulatory      1922..1927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="hexamer: ATTAAA"
     polyA_site      1945
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
     regulatory      2060..2065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="hexamer: AATAAA"
     polyA_site      2080
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
ORIGIN      
        1 gcaccggttc gcggtcggcg cgagaacaag cagggtggcg cgggtccggg catgaagctg
       61 ggccgggccg tgctgggcct gctgctgctg gcgccgtccg tggtgcaggc ggtggagccc
      121 atcagcctgg gactggccct ggccggcgtc ctcaccggct acatctaccc gcgtctctac
      181 tgcctcttcg ccgagtgctg cgggcagaag cggagcctta gccgggaggc actgcagaag
      241 gatctggacg acaacctctt tggacagcat cttgcaaaga aaatcatctt aaatgccgtg
      301 tttggtttca taaacaaccc aaagcccaag aaacctctca cgctctccct gcacgggtgg
      361 acaggcaccg gcaaaaattt cgtcagcaag atcatcgcag agaatattta cgagggtggt
      421 ctgaacagtg actatgtcca cctgtttgtg gccacattgc actttccaca tgcttcaaac
      481 atcaccttgt acaaggatca gttacagttg tggattcgag gcaacgtgag tgcctgtgcg
      541 aggtccatct tcatatttga tgaaatggat aagatgcatg caggcctcat agatgccatc
      601 aagcctttcc tcgactatta tgacctggtg gatggggtct cctaccagaa agccatgttc
      661 atatttctca gcaatgctgg agcagaaagg atcacagatg tggctttgga tttctggagg
      721 agtggaaagc agagggaaga catcaagctc aaagacattg aacacgcgtt gtctgtgtcg
      781 gttttcaata acaagaacag tggcttctgg cacagcagct taattgaccg gaacctcatt
      841 gattattttg ttcccttcct ccccctggaa tacaaacacc taaaaatgtg tatccgagtg
      901 gaaatgcagt cccgaggcta tgaaattgat gaagacattg taagcagagt ggctgaggag
      961 atgacatttt tccccaaaga ggagagagtt ttctcagata aaggctgcaa aacggtgttc
     1021 accaagttag attattacta cgatgattga cagtcatgat tggcagccgg agtcactgcc
     1081 tggagttgga aaagaaacaa cactcagtcc ttccacactt ccacccccag ctcctttccc
     1141 tggaagagga atccagtgaa tgttcctgtt tgatgtgaca ggaattctcc ctggcattgt
     1201 ttccaccccc tggtgcctgc aggccaccca gggaccacgg gcgaggacgt gaagcctccc
     1261 gaacacgcac agaaggaagg agccagctcc cagcccactc atcgcagggc tcatgatttt
     1321 ttacaaatta tgttttaatt ccaagtgttt ctgtttcaag gaaggatgaa taagttttat
     1381 tgaaaatgtg gtaactttat ttaaaatgat ttttaacatt atgagagact gctcagattc
     1441 taagttgttg gccttgtgtg tgtgtttttt tttaagttct catcattatt acatagactg
     1501 tgatgtatct ttactggaaa tgagcccaag cacacatgca tggcatttgt tccacaggag
     1561 ggcatccctg gggatgtggc tggagcatga gccagctctg tcccaggatg gtcccagcgg
     1621 atgctgccag gggcagtgaa gtgtttaggt gaaggacaag taggtaagag gacgccttca
     1681 ggcaccacag ataagcctga aacagcctct ccaagggttt tcaccttagc aacaatggga
     1741 gctgtgggag tgattttggc cacactgtca acatttgtta gaaccagtct tttgaaagaa
     1801 aagtatttcc aacttgtcac ttgccagtca ctccgttttg caaaaggtgg cccttcactg
     1861 tccattccaa atagcccaca cgtgctctct gctggattct aaattatgtg aattttgcca
     1921 tattaaatct tcctcattta tactattatt tgttacgttc aatcagaatc cccgaaacct
     1981 cctataaagc ttagctgccc cttctgagga tgctgagaac ggtgtctttc tttataaatg
     2041 caaatggcta ccgttttaca ataaaatttt gcatgtgcca
//
